| A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A |
Sa-Yoon Kang 
, Keun Hyuk Ko
, and Jung-Hwan Oh
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| Department of Neurology, Jeju National University School of Medicine, Jeju, Korea |
| Corresponding Author:
Sa-Yoon Kang ,Tel: +82-64-754-8175, Fax: +82-64-717-1630, Email: neurokang@jejunu.ac.kr |
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Received June 14, 2018 Revised: November 30, 2018 Accepted December 5, 2018 |
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| ABSTRACT |
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Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2. |
| Key words:
Charcot-Marie-Tooth disease; MFN2; Mutation; Phenotype |
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